P1722: CHANGES IN ACUTE HEPATIC PORPHYRIA HEALTH IMPACTS SINCE INITIAL DIAGNOSIS: RESULTS FROM THE PORPHYRIA WORLDWIDE PATIENT EXPERIENCE RESEARCH (POWER) STUDY
Authors: D. Nance, D. Lyon, S. Hegarty, R. Falchetto, J. Barman-Aksözen, T. Mnif, S. Meninger, S. Lombardelli, A. Dickey
Journal: HemaSphere (2022)

Background: Acute hepatic porphyria (AHP) is a rare and potentially life-threatening inherited disease caused by genetic mutations in the heme biosynthetic enzymes affecting the liver. Patients can experience acute neurovisceral attacks, chronic symptoms, long-term complications, and negative impact on many quality-of-life domains. Limited evidence is available on disease changes and impacts on patient health over time. Aims: This study evaluated AHP patient perceptions of changes in their disease characteristics and impacts in quality-of-life domains since AHP diagnosis among the overall study population and in subgroups based on time since first symptoms/diagnosis. Methods: Adults with >1 AHP attack within the past 2 years or receiving intravenous hemin and/or glucose for attack prevention were recruited via patient advocacy groups and physician referral from the United States, Italy, Spain, Australia, Mexico, and Brazil and were administered an online survey from January 19, 2021, to April 26, 2021. Patients taking givosiran were excluded. Patient perceptions of changes in overall health and disease characteristics since diagnosis/disease onset were evaluated. Subgroup analyses were conducted to evaluate differences in patients experiencing active disease for 0–5 years versus those experiencing active disease for ≥6 years. Patient-reported outcomes to evaluate anxiety and depression were assessed among subgroups using the Generalized Anxiety Disorder-7 (GAD-7) scale (0–21) and the Patient Health Questionnaire (PHQ-8) scale (0–24), respectively. Results: A total of 92 patients with AHP completed the survey. Mean age was 41.1 years, and 90% of patients were women. Mean time to diagnosis was 6.4 years, and mean duration of disease was 16.9 years. Most patients experienced negative (very or somewhat negative) impacts on emotional health (90%), physical health (87%), financial health (75%), social health (70%), and cognitive health (66%) since their diagnosis. Patients described disease characteristics as worsening (much worse or somewhat worse) since their diagnosis, including chronic pain (66%), kidney disease (55%), and acute pain (48%) (Figure). In subgroup analyses, 22% (N=20) of patients were found to have had active disease for 0–5 years, and 73% (N=67) had active disease for ≥6 years. Patients with active disease for 0–5 years were younger on average than patients with active disease for ≥6 years (33.9 vs 43.4 years, respectively). Patients with active disease for 0–5 years experienced a median of 2.5 attacks in the past 2 years, whereas patients with active disease for ≥6 years experienced a median of 5 attacks in the past 2 years. Thirty-five percent of patients experiencing AHP for 0–5 years reported a GAD-7 score ≥10, compared with 51% of patients experiencing AHP for ≥6 years. Severe anxiety (GAD-7 score ≥15) was reported in 20% and 28% of these patients, respectively. On the PHQ-8 scale, 30% of patients experiencing AHP for 0–5 years reported a score ≥10, indicating moderate to severe depression, compared with 66% of patients experiencing AHP for ≥6 years. Image:Summary/Conclusion: Patients with AHP experience negative impacts across multiple health domains and worsening in some disease characteristics since initial diagnosis. Longer duration of disease is associated with poorer perceived health status.